Pathways

PathWhiz ID Pathway Meta Data

PW122243

Pw122243 View Pathway
disease

Aspartylglucosaminuria

Homo sapiens
Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase (normally present in the liver and brain as well as other tissues). This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example, oligosaccharides) that are attached to specific proteins (for example, glycoproteins). Aspartylglucosaminuria itself is characterized as a lysosomal disease because it does deal with inadequate activity in an enzyme's function. Aspartylglucosaminidase functions to break down glycoproteins. These proteins are most abundant in the tissues of the body and in the surfaces of major organs, such as the liver, spleen, thyroid and nerves. When glycoproteins are not broken down, aspartylglucosaminidase backs up in the lysosomes along with other substances. This backup causes progressive damage to the tissues and organs. Aspartylglucosaminuria is a genetic condition that is inherited from both parents. The AGU patient is born with two copies of the mutated AGA gene. One copy comes from the mother’s egg and the other copy comes from the father’s sperm. In order to develop aspartylglucosaminuria, the individual must inherit changes in both of his AGU genes (autonomic recessive inheritance). When a person receives one changed form of the gene AGU from one of the parents, the individual is then classified as a carrier [Wikipedia].

PW124252

Pw124252 View Pathway
metabolic

biosynthesis novo

Homo sapiens

PW124344

Pw124344 View Pathway
metabolic

biosynthesis novo 1605518331

Homo sapiens

PW123844

Pw123844 View Pathway
metabolic

chebulagic acid Metabolism

Acinetobacter baylyi (strain ATCC 33305 / BD413 / ADP1)

PW122545

Pw122545 View Pathway
signaling

chebulagic acid Metabolism 1550463482 1563965617

Homo sapiens

PW124069

Pw124069 View Pathway
signaling

chebulagic acid Metabolism 1559277983 1589861306 1597248631

Homo sapiens

PW124042

Pw124042 View Pathway
signaling

chebulagic acid Metabolism 1559277983 1596798296

Homo sapiens

PW123794

Pw123794 View Pathway
signaling

chebulagic acid Metabolism 1581167212

Homo sapiens

PW123807

Pw123807 View Pathway
signaling

chebulagic acid Metabolism 1581839290

Homo sapiens

PW064753

Pw064753 View Pathway
metabolic

Mapa metabólico

Homo sapiens